Coucke PJ - Search Results

1

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

Costrop LM, Vanakker OO, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Costrop LM, et al. Among authors: coucke pj. J Hum Genet. 2010 Feb;55(2):112-7. doi: 10.1038/jhg.2009.132. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075945 Free article.

2

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Vanakker OM, et al. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9514. Hum Mutat. 2008. PMID: 18157818

3

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A. Vanakker OM, et al. Among authors: coucke pj. Am J Med Genet A. 2011 Nov;155A(11):2855-9. doi: 10.1002/ajmg.a.34264. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964806

4

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.

Hosen MJ, Coucke PJ, Le Saux O, De Paepe A, Vanakker OM. Hosen MJ, et al. Among authors: coucke pj. Orphanet J Rare Dis. 2014 Apr 29;9:66. doi: 10.1186/1750-1172-9-66. Orphanet J Rare Dis. 2014. PMID: 24775865 Free PMC article.

5

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM. Hosen MJ, et al. Among authors: coucke pj. J Invest Dermatol. 2015 Apr;135(4):992-998. doi: 10.1038/jid.2014.421. Epub 2014 Sep 29. J Invest Dermatol. 2015. PMID: 25264593 Free PMC article.

6

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.

De Vilder EYG, Hosen MJ, Martin L, De Zaeytijd J, Leroy BP, Ebran JM, Coucke PJ, De Paepe A, Vanakker OM. De Vilder EYG, et al. Among authors: coucke pj. Clin Genet. 2020 Jul;98(1):74-79. doi: 10.1111/cge.13751. Epub 2020 May 10. Clin Genet. 2020. PMID: 32270475

7

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.

Verschuere S, Navassiolava N, Martin L, Nevalainen PI, Coucke PJ, Vanakker OM. Verschuere S, et al. Among authors: coucke pj. Genet Med. 2021 Jan;23(1):131-139. doi: 10.1038/s41436-020-00945-6. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873932 Free article.

8

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Vanakker OM, et al. Among authors: coucke pj. J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16. J Invest Dermatol. 2007. PMID: 17110937 Free article.

9

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. Loeys B, et al. Hum Mol Genet. 2002 Sep 1;11(18):2113-8. doi: 10.1093/hmg/11.18.2113. Hum Mol Genet. 2002. PMID: 12189163

10

Mutation analysis of the FBN1 gene in patients with Marfan syndrome.

Coucke P, Van Acker P, De Paepe A. Coucke P, et al. Methods Mol Med. 2006;126:81-95. doi: 10.1385/1-59745-088-X:81. Methods Mol Med. 2006. PMID: 16930007

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